Department of Public Health Sciences, University of Chicago, Chicago, IL, 60615, USA.
University of Chicago Research Bangladesh, Dhaka, Bangladesh.
Environ Res. 2024 Jan 1;240(Pt 2):117482. doi: 10.1016/j.envres.2023.117482. Epub 2023 Oct 24.
There is growing consensus that researchers should offer to return genetic results to participants, but returning results in lower-resource countries has received little attention. In this study, we return results on genetic susceptibility to arsenic toxicity to participants in a Bangladeshi cohort exposed to arsenic through naturally-contaminated drinking water. We examine the impact on behavioral changes related to exposure reduction.
We enrolled participants from the Health Effects of Arsenic Longitudinal Study who had (1) high arsenic (≥150 μg/g creatinine) in a recent urine sample and (2) existing data on genetic variants impacting arsenic metabolism efficiency (AS3MT and FTCD). We used genetic data to recruit three study groups, each with n = 103: (1) efficient metabolizers (low-risk), (2) inefficient metabolizers (high-risk), and (3) a randomly-selected control group (NCT05072132). At baseline, all participants received information on the effects of arsenic and how to reduce exposure by switching to a low arsenic well. The two intervention groups also received their arsenic metabolism efficiency status (based on their genetic results). Changes in behavior and arsenic exposure were assessed using questionnaires and urine arsenic measures after six months.
Clear decreases in urine arsenic after six months were observed for all three groups. The inefficient group self-reported higher levels of attempted switching to lower arsenic wells than the other groups; however, there was no detectable difference in urine arsenic reduction among the three groups. Participants showed strong interest in receiving genetic results and found them useful. The inefficient group experienced higher levels of anxiety than the other groups. Among the efficient group, that receiving genetic results did not appear to hinder behavioral change.
Returning genetic results increased self-reported exposure-reducing behaviors but did not have a detectable impact on reducing urine arsenic over and above a one-on-one educational intervention.
越来越多的人认为研究人员应该向参与者提供遗传结果，但在资源较少的国家，这方面的研究却很少。在这项研究中，我们向孟加拉国一个因饮用受污染水而接触砷的队列中的参与者返还了与砷毒性遗传易感性相关的结果。我们研究了这对减少接触相关行为变化的影响。
我们从健康影响砷纵向研究中招募了参与者，这些参与者最近的尿液样本中砷含量（≥150μg/g 肌酐）较高，并且（2）存在影响砷代谢效率的遗传变异（AS3MT 和 FTCD）的现有数据。我们使用遗传数据招募了三组研究对象，每组 103 人：（1）高效代谢者（低风险），（2）低效代谢者（高风险），以及（3）随机选择的对照组（NCT05072132）。在基线时，所有参与者都收到了关于砷的影响以及如何通过切换到低砷井来减少暴露的信息。两个干预组还收到了他们的砷代谢效率状态（基于他们的遗传结果）。六个月后，通过问卷调查和尿液砷测量评估行为变化和砷暴露情况。
所有三组参与者的尿液砷含量在六个月后均明显下降。低效组自我报告的尝试切换到低砷井的比例高于其他两组；然而，三组之间尿液砷减少量没有可检测到的差异。参与者对收到遗传结果表现出浓厚的兴趣，并认为它们有用。低效组比其他两组经历了更高水平的焦虑。在高效组中，收到遗传结果似乎并没有阻碍行为改变。
返还遗传结果增加了自我报告的减少暴露行为，但除了一对一的教育干预外，对减少尿液砷含量没有可检测到的影响。
